Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099064013 | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5099065014 | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5099066010 | CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5099068011 | Carbohydrate deficient glycoprotein syndrome type Iz | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 5099069015 | Congenital disorder of glycosylation type 1z | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Normocytic anemia | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Hereditary disorder of cellular element of blood | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Epileptic encephalopathy | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Finding site | Structure of cerebrum | true | Inferred relationship | Existential restriction modifier | 2 | |
| Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR